With panel sequencing data for more than 143,000 individuals, researchers characterized intragenic copy number variants in hundreds of monogenic disease genes.
Exome sequences for individuals with or without sound-color synesthesia in three multi-generational families led to rare variants in axonogenesis genes.
The firm, which specializes in neurogenetics, recently launched several diagnostic RNA sequencing tests and is working on a methylome test for imprinting disorders.
PerkinElmer Genetics will provide clinical whole-genome sequencing, data interpretation, and diagnostic reports to IDG for patients with neurological disorders.
The firm wants to develop a test that can provide objective, reliable, and rapid information so that clinicians can make critical decisions in circumstances of high uncertainty.
The Wall Street Journal reports that Russia's announcement of a coronavirus vaccine approval was met with concern as safety testing has not yet been completed.
Nature News reports that recent proposed changes to the US National Science Foundation have raised concerns about a shift away from the agency's focus on basic research.
